A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004790



Internal ID18747321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248346193..248709345hg38UCSC Ensembl
Innerchr1:248509495..248872646hg19UCSC Ensembl
Innerchr1:246576118..246939269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38363153
hg19363152
hg18363152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3487465, nssv3499369, nssv3705584, nssv3705583, nssv3489756, nssv3496801
Samples
Known GenesOR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004790
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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